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Osteopathia striata

MedGen UID:
75574
Concept ID:
C0265513
Congenital Abnormality
Synonym: Voorhoeve's disease
SNOMED CT: Osteopathia striata (82663009); Voorhoeve's disease (82663009)
 
HPO: HP:0010740

Definition

A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. [from HPO]

Term Hierarchy

Conditions with this feature

Focal dermal hypoplasia
MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment.
Osteopathia striata with cranial sclerosis
MedGen UID:
96590
Concept ID:
C0432268
Disease or Syndrome
Most females with osteopathia striata with cranial sclerosis (OS-CS) present with macrocephaly and characteristic facial features (frontal bossing, hypertelorism, epicanthal folds, depressed nasal bridge, and prominent jaw). Approximately half have associated features including orofacial clefting and hearing loss, and a minority have some degree of developmental delay (usually mild). Radiographic findings of cranial sclerosis, sclerosis of long bones, and metaphyseal striations (in combination with macrocephaly) can be considered pathognomonic. Males can present with a mild or severe phenotype. Mildly affected males have clinical features similar to affected females, including macrocephaly, characteristic facial features, orofacial clefting, hearing loss, and mild-to-moderate learning delays. Mildly affected males are more likely than females to have congenital or musculoskeletal anomalies. Radiographic findings include cranial sclerosis and sclerosis of the long bones; Metaphyseal striations are more common in males who are mosaic for an AMER1 pathogenic variant. The severe phenotype manifests in males as a multiple-malformation syndrome, lethal in mid-to-late gestation, or in the neonatal period. Congenital malformations include skeletal defects (e.g., polysyndactyly, absent or hypoplastic fibulae), congenital heart disease, and brain, genitourinary, and gastrointestinal anomalies. Macrocephaly is not always present and longitudinal metaphyseal striations have not been observed in severely affected males, except for those who are mosaic for the AMER1 pathogenic variant.
Martsolf syndrome 1
MedGen UID:
1778114
Concept ID:
C5542298
Disease or Syndrome
RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.

Recent clinical studies

Etiology

Ng DW
J Pediatr Health Care 2017 Jul-Aug;31(4):511-516. Epub 2017 Apr 5 doi: 10.1016/j.pedhc.2017.01.003. PMID: 28390856
Fradin M, Collet C, Ract I, Odent S, Guggenbuhl P
Joint Bone Spine 2017 Jan;84(1):87-90. Epub 2016 Jun 28 doi: 10.1016/j.jbspin.2016.04.012. PMID: 27369646
Riyaz N, Riyaz A, Chandran R, Rakesh SV
Indian J Dermatol Venereol Leprol 2005 Jul-Aug;71(4):279-81. doi: 10.4103/0378-6323.16624. PMID: 16394441
Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM
Eur Radiol 2000;10(9):1423-33. doi: 10.1007/s003300000495. PMID: 10997431
König R, Dukiet C, Dörries A, Zabel B, Fuchs S
Am J Med Genet 1996 May 3;63(1):68-73. doi: 10.1002/(SICI)1096-8628(19960503)63:1<68::AID-AJMG14>3.0.CO;2-S. PMID: 8723089

Diagnosis

Boulet C, Madani H, Lenchik L, Vanhoenacker F, Amalnath DS, de Mey J, De Maeseneer M
Br J Radiol 2016 Jun;89(1062):20150349. Epub 2016 Feb 22 doi: 10.1259/bjr.20150349. PMID: 26898950Free PMC Article
de Vernejoul MC, Kornak U
Ann N Y Acad Sci 2010 Mar;1192:269-77. doi: 10.1111/j.1749-6632.2009.05244.x. PMID: 20392246
Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM
Eur Radiol 2000;10(9):1423-33. doi: 10.1007/s003300000495. PMID: 10997431
Behninger C, Rott HD
Genet Couns 2000;11(2):157-67. PMID: 10893667
Carlson DH
J Can Assoc Radiol 1977 Sep;28(3):190-2. PMID: 893523

Therapy

Katsevman GA, Turner RC, Lucke-Wold BP, Sedney CL, Bhatia S
Acta Neurochir (Wien) 2016 Jun;158(6):1115-20. Epub 2016 Apr 11 doi: 10.1007/s00701-016-2794-4. PMID: 27068044
Rott HD, Krieg P, Rütschle H, Kraus C
Genet Couns 2003;14(3):281-8. PMID: 14577672
Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V
Am J Med Genet 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. PMID: 11807859
Kondoh T, Yoshinaga M, Matsumoto T, Takayanagi T, Uetani M, Kubota T, Nishimura G, Moriuchi H
Pediatr Radiol 2001 Sep;31(9):659-62. doi: 10.1007/s002470100486. PMID: 11512010

Prognosis

Ng DW
J Pediatr Health Care 2017 Jul-Aug;31(4):511-516. Epub 2017 Apr 5 doi: 10.1016/j.pedhc.2017.01.003. PMID: 28390856
Fukuzawa R, Holman SK, Chow CW, Savarirayan R, Reeve AE, Robertson SP
J Med Genet 2010 Nov;47(11):791-4. Epub 2010 Aug 2 doi: 10.1136/jmg.2010.080663. PMID: 20679664
Riyaz N, Riyaz A, Chandran R, Rakesh SV
Indian J Dermatol Venereol Leprol 2005 Jul-Aug;71(4):279-81. doi: 10.4103/0378-6323.16624. PMID: 16394441
Berenholz L, Lippy W, Harrell M
Otolaryngol Head Neck Surg 2002 Jul;127(1):124-6. doi: 10.1067/mhn.2002.124852. PMID: 12161743
König R, Dukiet C, Dörries A, Zabel B, Fuchs S
Am J Med Genet 1996 May 3;63(1):68-73. doi: 10.1002/(SICI)1096-8628(19960503)63:1<68::AID-AJMG14>3.0.CO;2-S. PMID: 8723089

Clinical prediction guides

O'Byrne JJ, Phelan E, Steenackers E, van Hul W, Reardon W
Clin Dysmorphol 2016 Apr;25(2):45-9. doi: 10.1097/MCD.0000000000000116. PMID: 26886897
Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Miñaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP
Am J Med Genet A 2011 Oct;155A(10):2397-408. doi: 10.1002/ajmg.a.34178. PMID: 22043478
Fukuzawa R, Holman SK, Chow CW, Savarirayan R, Reeve AE, Robertson SP
J Med Genet 2010 Nov;47(11):791-4. Epub 2010 Aug 2 doi: 10.1136/jmg.2010.080663. PMID: 20679664
Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP
Nat Genet 2009 Jan;41(1):95-100. Epub 2008 Dec 14 doi: 10.1038/ng.270. PMID: 19079258
Behninger C, Rott HD
Genet Couns 2000;11(2):157-67. PMID: 10893667

Recent systematic reviews

Zicari AM, Tarani L, Perotti D, Papetti L, Nicita F, Liberati N, Spalice A, Salvatori G, Guaraldi F, Duse M
Ital J Pediatr 2012 Jun 20;38:27. doi: 10.1186/1824-7288-38-27. PMID: 22716240Free PMC Article

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